Variant report

Variant	rs58073987
Chromosome Location	chr5:89797547-89797548
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89768849..89770489-chr5:89796920..89799253,2	K562	blood:
2	chr5:89795388..89799823-chr5:89809630..89813266,4	K562	blood:
3	chr5:89774118..89776549-chr5:89797426..89799656,2	K562	blood:
4	chr5:89787516..89789972-chr5:89796977..89800489,3	K562	blood:
5	chr5:89795929..89798320-chr5:89799326..89801765,2	K562	blood:

Variant related genes	Relation type
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56833355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73188475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73190451	1.00[EUR][1000 genomes]
rs7700312	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882364	chr5:89748142-89808531	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89771600-89798800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:89771600-89814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:89773600-89798800	Weak transcription	HMEC	breast
4	chr5:89773800-89816000	Weak transcription	HepG2	liver
5	chr5:89773800-89824400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:89774000-89814600	Weak transcription	Dnd41	blood
7	chr5:89774400-89814600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:89776200-89799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:89776200-89800400	Weak transcription	HUVEC	blood vessel
10	chr5:89776600-89798800	Weak transcription	NHEK	skin
11	chr5:89777000-89806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:89780400-89799800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:89780400-89810800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:89780600-89822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:89780800-89800000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:89780800-89800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:89781000-89799400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:89783000-89800800	Weak transcription	A549	lung
19	chr5:89783800-89813400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:89784800-89814600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:89785200-89798800	Weak transcription	NHDF-Ad	bronchial
22	chr5:89785400-89798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:89785400-89799400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:89785400-89814600	Weak transcription	NHLF	lung
25	chr5:89786200-89799400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:89788800-89799800	Weak transcription	NH-A	brain
27	chr5:89789800-89798200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr5:89790200-89809600	Weak transcription	GM12878-XiMat	blood
29	chr5:89791400-89814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:89791600-89813800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:89791600-89814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:89792200-89810400	Weak transcription	Left Ventricle	heart
33	chr5:89793800-89823400	Weak transcription	Hela-S3	cervix
34	chr5:89794800-89801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:89795200-89798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:89795400-89797600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:89795400-89800800	Weak transcription	K562	blood
38	chr5:89795600-89798600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:89796800-89799000	Weak transcription	Osteobl	bone
40	chr5:89797200-89798000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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